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A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure

1 Jan 2024

Abstract excerpt

STUDY QUESTION: Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility? SUMMARY ANSWER: ) along with 32 potentially pathogenic rare variants in 30 genes that contribute to this condition. WHAT IS KNOWN ALREADY: SPGF is a major cause of male infertility, often with an unknown...

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PMID: 39678461
DOI: 10.1093/hropen/hoae069

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